リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_000251.3(MSH2):c.2006-1G>C	MSH2	Likely pathogenic	2	47703505	47703505	G	C	reviewed by expert panel	ClinGen:CA019741
single nucleotide variant	NM_000251.3(MSH2):c.2006-2A>G	MSH2	Likely pathogenic	2	47703504	47703504	A	G	reviewed by expert panel	ClinGen:CA019751
single nucleotide variant	NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)	MSH2	Pathogenic	2	47703506	47703506	G	T	reviewed by expert panel	ClinGen:CA019785
Deletion	NM_000251.3(MSH2):c.2010del (p.Asn671fs)	MSH2	Pathogenic	2	47703507	47703507	GC	G	reviewed by expert panel	ClinGen:CA019800
single nucleotide variant	NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr)	MSH2	Likely pathogenic	2	47703511	47703511	A	T	criteria provided, single submitter	UniProtKB:P43246#VAR_043778
single nucleotide variant	NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys)	MSH2	Likely pathogenic	2	47703513	47703513	T	A	criteria provided, single submitter	ClinGen:CA019811
Deletion	NM_000251.3(MSH2):c.2015del (p.Met672fs)	MSH2	Pathogenic	2	47703515	47703515	AT	A	reviewed by expert panel	ClinGen:CA019815
single nucleotide variant	NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg)	MSH2	Likely pathogenic	2	47703520	47703520	G	C	reviewed by expert panel	ClinGen:CA019825,UniProtKB:P43246#VAR_067288
single nucleotide variant	NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp)	MSH2	Likely pathogenic	2	47703521	47703521	G	A	reviewed by expert panel	ClinGen:CA019835
Deletion	NM_000251.3(MSH2):c.2021_2022del (p.Gly674fs)	MSH2	Pathogenic	2	47703521	47703522	GGT	G	reviewed by expert panel	ClinGen:CA019830